Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis

被引:43
|
作者
Kumar, Nilay [1 ]
Hanks, Mary E. [3 ]
Chandrasekaran, Prabha [3 ]
Davis, Brian C. [1 ]
Hsu, Amy P. [3 ]
Van Wagoner, Nicholas J. [2 ]
Merlin, Jessica S. [2 ]
Spalding, Christine [3 ]
La Hoz, Ricardo M. [4 ]
Holland, Steven M. [3 ]
Zerbe, Christa S. [3 ]
Sampaio, Elizabeth P. [3 ]
机构
[1] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA
[2] Univ Alabama Birmingham, Dept Med, Div Infect Dis, Birmingham, AL 35294 USA
[3] NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA
[4] Wake Forest Univ, Bowman Gray Sch Med, Dept Med, Infect Dis Sect, Winston Salem, NC 27103 USA
关键词
CHRONIC MUCOCUTANEOUS CANDIDIASIS; CHILDREN;
D O I
10.1016/j.jaci.2014.02.037
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
[No abstract available]
引用
收藏
页码:236 / 239
页数:8
相关论文
共 50 条
  • [31] Functional analysis of Rousettus aegyptiacus "signal transducer and activator of transcription 1" (STAT1)
    Fujii, Hikaru
    Watanabe, Shumpei
    Yamane, Daisuke
    Ueda, Naoya
    Iha, Koichiro
    Taniguchi, Satoshi
    Kato, Kentaro
    Tohya, Yukinobu
    Kyuwa, Shigeru
    Yoshikawa, Yasuhiro
    Akashi, Hiroomi
    DEVELOPMENTAL AND COMPARATIVE IMMUNOLOGY, 2010, 34 (05): : 598 - 602
  • [32] Severe scabies In Two Patients with Gain-of-function mutations in Signal transducer and activator of transcription 1
    Van Meerbeke, Sara
    Gehris, Robin
    Campfield, Brian
    Chong, Hey
    JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (SUPPL 1) : S19 - S19
  • [33] Characterization of a novel gain-of-function mutation in the interferon-dependent transcription factor STAT1
    Staab, J.
    Schwaemmle, T. F.
    Fangauf, S. V.
    Meyer, T.
    NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY, 2019, 392 : S49 - S49
  • [34] Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function
    Shamriz, Oded
    Lev, Atar
    Simon, Amos J.
    Barel, Ortal
    Javasky, Elisheva
    Matza-Porges, Sigal
    Shaulov, Adir
    Davidovics, Zev
    Toker, Ori
    Somech, Raz
    Zlotogorski, Abraham
    Molho-Pessach, Vered
    Tal, Yuval
    CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2021, 206 (01): : 56 - 67
  • [35] OUTCOME OF PATIENTS WITH SIGNAL-TRANSDUCER AND ACTIVATOR OF OF TRANSCRIPTION 1 MUTATIONS (STAT1) GAIN-OF-FUNCTION VARIANTS AFTER HAEMATOPOIETIC STEM CELL TRANSPLANTATION - AN IEWP/PIDTC STUDY
    Buddingh, Emilie Pauline
    Slatter, Mary
    Aldave Becerra, Juan Carlos
    Alonso Garcia, Laura
    von Asmuth, Erik
    Baris, Safa
    de la Calle-Martin, Oscar
    Chan, Alice
    Chan, Bianca
    Chandrakasan, Shanmuganathan
    Chellapandian, Deepak
    Dara, Jasmeen
    Landsverk, Hans Christian Erichsen
    Farmand, Susan
    Fasth, Anders
    Forbes, Lisa
    Formankova, Renata
    Grunebaum, Eyal
    Keogh, Steven
    Kiykim, Ayca
    Kuehl, Joern-Sven
    Laberko, Alexandra
    Lankester, Arjan
    Leahy, T. R.
    Lindemans, Caroline
    Martinez, Caridad
    Martinez-Martinez, Laura
    Mitchell, William Glenn
    Morris, Emma
    Neven, Benedicte
    Oved, Joe
    Prazenicova, Maria
    Gabriel Riviere, Jacques
    Roifman, Chaim
    Gultekin, Sara Sebnem Kilic
    Sedlacek, Petr
    Shah, Ami
    Vong, Linda
    Leiding, Jennifer
    Schuez, Catharina
    BONE MARROW TRANSPLANTATION, 2024, 59 : 94 - 95
  • [36] Gain-of-function STAT1 mutations are associated with intracranial aneurysms
    Dadak, Mete
    Jacobs, Roland
    Skuljec, Jelena
    Jirmo, Adan Chari
    Yildiz, Oezlem
    Donnerstag, Frank
    Baerlecken, Niklas Thomas
    Schmidt, Reinhold Ernst
    Lanfermann, Heinrich
    Skripuletz, Thomas
    Schwenkenbecher, Philipp
    Kleinschnitz, Christoph
    Tumani, Hayrettin
    Stangel, Martin
    Pul, Refik
    CLINICAL IMMUNOLOGY, 2017, 178 : 79 - 85
  • [37] Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1
    Carey, Barbara
    Lambourne, Jonathan
    Porter, Stephen
    Hodgson, Tim
    ORAL DISEASES, 2019, 25 (03) : 684 - 692
  • [38] Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma
    Henrickson, Sarah E.
    Dolan, Joseph G.
    Forbes, Lisa R.
    Vargas-Hernandez, Alexander
    Nishimura, Shiho
    Okada, Satoshi
    Kersun, Leslie S.
    Brodeur, Garrett M.
    Heimall, Jennifer R.
    FRONTIERS IN PEDIATRICS, 2019, 7
  • [39] Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis
    Wang, Xiaowen
    Lin, Zhimiao
    Gao, Lujuan
    Wang, Aiping
    Wan, Zhe
    Chen, Wei
    Yang, Yong
    Li, Ruoyu
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 131 (04) : 1242 - 1243
  • [40] STAT1 gain-of-function and chronic demodicosis
    Molho-Pessach, Vered
    Meltser, Arnon
    Kamshov, Adaia
    Ramot, Yuval
    Zlotogorski, Abraham
    PEDIATRIC DERMATOLOGY, 2020, 37 (01) : 153 - 155